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rs386833764

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAA;GAA) 0 common in clinvar
Make rs386833764(-;-)
Make rs386833764(-;GAA)
ReferenceGRCh38 38.1/141
Chromosome4
Position15511391
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs386833764
ebirs386833764
HLIrs386833764
Exacrs386833764
Varsomers386833764
Maprs386833764
PheGenIrs386833764
hapmaprs386833764
1000 genomesrs386833764
hgdprs386833764
ensemblrs386833764
gopubmedrs386833764
geneviewrs386833764
scholarrs386833764
googlers386833764
pharmgkbrs386833764
gwascentralrs386833764
openSNPrs386833764
23andMers386833764
23andMe allrs386833764
SNP Nexus

SNPshotrs386833764
SNPdbers386833764
MSV3drs386833764
GWAS Ctlgrs386833764
GMAF0.04178
Max Magnitude0
ClinVar
Risk rs386833764(;)
Alt rs386833764(;)
Reference rs386833764(GAA;GAA)
Significance Probable-Pathogenic
Disease Meckel syndrome type 6 not specified
Variation info
Gene CC2D2A
CLNDBN Meckel syndrome type 6 not specified
Reversed 0
HGVS NC_000004.11:g.15513014_15513016delGAA
CLNSRC HGMD
CLNACC RCV000049728.1, RCV000079448.4,


[PMID 21068128OA-icon.png] Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.